Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0011463 | HP:0011463 | Childhood onset | 0 | AAAS CL E G H | 8086 | 13666 | OMIM:231550 | Achalasia-Addisonianism-Alacrima syndrome | . | | | 57 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ABCA4 CL E G H | 24 | 34 | OMIM:604116 | CONE-ROD DYSTROPHY 3; CORD3 | | | | 826 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ABCB6 CL E G H | 10058 | 47 | OMIM:615402 | DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3 | | | | 20 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ABHD12 CL E G H | 26090 | 15868 | OMIM:612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | | | | 50 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ACO2 CL E G H | 50 | 118 | OMIM:616289 | Optic atrophy 9 | | | | 60 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | | | | 16 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ACSL4 CL E G H | 2182 | 3571 | OMIM:300387 | MENTAL RETARDATION, X-LINKED 63; MRX63 | | | | 19 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ACTC1 CL E G H | 70 | 143 | OMIM:613424 | Cardiomyopathy, dilated, 1R | | | | 208 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ADAMTS19 CL E G H | 171019 | 17111 | OMIM:620067 | | | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ADAR CL E G H | 103 | 225 | OMIM:615010 | Aicardi-Goutieres syndrome 6 | | | | 116 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ADCY3 CL E G H | 109 | 234 | OMIM:617885 | Body mass index quantitative trait locus 19 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ADGRV1 CL E G H | 84059 | 17416 | OMIM:604352 | Febrile seizures, familial, 4 | . | | | 530 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ADPRS CL E G H | 54936 | 21304 | OMIM:618170 | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | AEBP1 CL E G H | 165 | 303 | OMIM:618000 | Ehlers-Danlos syndrome, classic-like, 2 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | AGA CL E G H | 175 | 318 | OMIM:208400 | ASPARTYLGLUCOSAMINURIA | | | | 76 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | AGPAT2 CL E G H | 10555 | 325 | OMIM:608594 | Lipodystrophy, congenital generalized, type 1 | | | | 85 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | AGRN CL E G H | 375790 | 329 | OMIM:615120 | Myasthenic syndrome, congenital, 8 | | | | 127 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | AGTPBP1 CL E G H | 23287 | 17258 | OMIM:618276 | Neurodegeneration, childhood-onset, with cerebellar atrophy | | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | AICDA CL E G H | 57379 | 13203 | OMIM:605258 | Immunodeficiency with hyper-igm, type 2 | | | | 58 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300232 | Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration | | | | 60 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ALAS2 CL E G H | 212 | 397 | OMIM:300751 | Anemia, sideroblastic, X-linked | | | | 72 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ALAS2 CL E G H | 212 | 397 | OMIM:300752 | Protoporphyria, erythropoietic, X-linked | . | | | 72 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ALDH5A1 CL E G H | 7915 | 408 | OMIM:271980 | Succinic semialdehyde dehydrogenase deficiency | | | | 108 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ALG10B CL E G H | 144245 | 31088 | OMIM:613688 | Long QT syndrome 2 | | | | 3 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ALG2 CL E G H | 85365 | 23159 | OMIM:607906 | Congenital disorder of glycosylation, type Ii | | | | 46 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ALPK3 CL E G H | 57538 | 17574 | OMIM:618052 | Cardiomyopathy, familial hypertrophic 27 | | | | 89 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | | | | 114 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:606353 | Primary lateral sclerosis, juvenile | . | | | 114 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:607225 | Spastic paralysis, infantile-onset ascending | | | | 114 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ANK1 CL E G H | 286 | 492 | OMIM:182900 | Spherocytosis, type 1 | | | | 150 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ANKS6 CL E G H | 203286 | 26724 | OMIM:615382 | Nephronophthisis 16 | | | | 32 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ANTXR2 CL E G H | 118429 | 21732 | OMIM:228600 | Hyaline fibromatosis syndrome | | | | 49 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | APC2 CL E G H | 10297 | 24036 | OMIM:617169 | Sotos syndrome 3 | | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | APCDD1 CL E G H | 147495 | 15718 | OMIM:605389 | Hypotrichosis 1 | | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | APRT CL E G H | 353 | 626 | OMIM:614723 | Adenine phosphoribosyltransferase deficiency | | | | 19 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | APTX CL E G H | 54840 | 15984 | OMIM:208920 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | | | | 61 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | AQP5 CL E G H | 362 | 638 | OMIM:600231 | PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB | | | | 5 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ARG1 CL E G H | 383 | 663 | OMIM:207800 | Argininemia | | | | 31 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ARL6IP1 CL E G H | 23204 | 697 | OMIM:615685 | Spastic paraplegia 61, autosomal recessive | | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ARSB CL E G H | 411 | 714 | OMIM:253200 | Mucopolysaccharidosis, type VI | | | | 120 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ARSK CL E G H | 153642 | 25239 | OMIM:619698 | MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ASAH1 CL E G H | 427 | 735 | OMIM:228000 | Farber lipogranulomatosis | | | | 78 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ASAH1 CL E G H | 427 | 735 | OMIM:159950 | Spinal muscular atrophy with progressive myoclonic epilepsy | | | | 78 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ASPH CL E G H | 444 | 757 | OMIM:601552 | Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs | | | | 4 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | | | | 3267 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ATP11A CL E G H | 23250 | 13552 | OMIM:619810 | DEAFNESS, AUTOSOMAL DOMINANT 84; DFNA84 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ATP13A3 CL E G H | 79572 | 24113 | OMIM:265400 | Pulmonary hypertension, primary, autosomal recessive | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ATP1A2 CL E G H | 477 | 800 | OMIM:104290 | Alternating hemiplegia of childhood 1 | | | | 239 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ATP1A2 CL E G H | 477 | 800 | OMIM:619605 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98 | | | | 239 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss | | | | 150 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:619606 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99 | | | | 150 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:128235 | Dystonia 12 | | | | 150 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ATP2A1 CL E G H | 487 | 811 | OMIM:601003 | BRODY MYOPATHY | | | | 80 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ATP2B1 CL E G H | 490 | 814 | OMIM:619910 | | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ATP2B2 CL E G H | 491 | 815 | OMIM:619804 | DEAFNESS, AUTOSOMAL DOMINANT 82; DFNA82 | | | | 5 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ATP5F1D CL E G H | 513 | 837 | OMIM:618120 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 5 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ATP5MC3 CL E G H | 518 | 843 | OMIM:619681 | DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ATP6AP1 CL E G H | 537 | 868 | OMIM:300972 | IMMUNODEFICIENCY 47; IMD47 | | | | 5 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ATP6V0A4 CL E G H | 50617 | 866 | OMIM:602722 | RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR | | | | 64 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ATR CL E G H | 545 | 882 | OMIM:614564 | Cutaneous telangiectasia and cancer syndrome, familial | | | | 168 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | | | | 169 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | B3GALNT2 CL E G H | 148789 | 28596 | OMIM:615181 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 | | | | 43 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | BAAT CL E G H | 570 | 932 | OMIM:619232 | BILE ACID CONJUGATION DEFECT 1; BACD1 | | | | 63 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | BANF1 CL E G H | 8815 | 17397 | OMIM:614008 | Nestor-Guillermo progeria syndrome | | | | 22 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | BDP1 CL E G H | 55814 | 13652 | OMIM:618257 | Deafness, autosomal recessive 112 | | | | 2 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | BFSP1 CL E G H | 631 | 1040 | OMIM:611391 | Cataract 33, multiple types | | | | 15 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | BICD2 CL E G H | 23299 | 17208 | OMIM:615290 | Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant | | | | 46 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | BTD CL E G H | 686 | 1122 | OMIM:253260 | Biotinidase deficiencymultiple carboxylase deficiency, late-onset | | | | 223 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | | | | 109 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:614298 | Neurodegeneration with brain iron accumulation 4 | | | | 114 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | C3 CL E G H | 718 | 1318 | OMIM:613779 | Complement component 3 deficiency, autosomal recessive | | | | 92 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | C3 CL E G H | 718 | 1318 | OMIM:612925 | Hemolytic uremic syndrome, atypical, susceptibility to, 5 | | | | 92 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CACNA1H CL E G H | 8912 | 1395 | OMIM:617027 | Hyperaldosteronism, familial, type IV | | | | 75 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CACNB4 CL E G H | 785 | 1404 | OMIM:607682 | Epilepsy, idiopathic generalized, susceptibility to, 9 | | | | 146 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CACNG2 CL E G H | 10369 | 1406 | OMIM:614256 | Mental retardation, autosomal dominant 10 | | | | 5 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CADM3 CL E G H | 57863 | 17601 | OMIM:619519 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF | | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CALM1 CL E G H | 801 | 1442 | OMIM:614916 | Ventricular tachycardia, catecholaminergic polymorphic, 4 | | | | 18 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CALM2 CL E G H | 805 | 1445 | OMIM:616249 | Long QT syndrome 15 | | | | 13 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CAPN3 CL E G H | 825 | 1480 | OMIM:618129 | Muscular dystrophy, limb-girdle, autosomal dominant 4 | | | | 323 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CAPN3 CL E G H | 825 | 1480 | OMIM:253600 | Muscular dystrophy, limb-girdle, type 2A | | | | 323 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CARD9 CL E G H | 64170 | 16391 | OMIM:212050 | Candidiasis, familial chronic mucocutaneous, autosomal recessive | | | | 45 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CASK CL E G H | 8573 | 1497 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | | | | 118 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CASQ2 CL E G H | 845 | 1513 | OMIM:604772 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1 | | | | 129 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CASQ2 CL E G H | 845 | 1513 | OMIM:611938 | Ventricular tachycardia, catecholaminergic polymorphic, 2 | | | | 129 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CASR CL E G H | 846 | 1514 | OMIM:601198 | Hypocalcemia, autosomal dominant 1 | | | | 272 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CAV1 CL E G H | 857 | 1527 | OMIM:615343 | Pulmonary hypertension, primary, 3 | | | | 11 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CBLIF CL E G H | 2694 | 4268 | OMIM:261000 | Intrinsic factor deficiency | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CBS CL E G H | 875 | 1550 | OMIM:236200 | Homocystinuria due to cystathionine beta-synthase deficiency | | | | 242 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CC2D1A CL E G H | 54862 | 30237 | OMIM:608443 | Mental retardation, autosomal recessive 3 | | | | 57 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CCDC134 CL E G H | 79879 | 26185 | OMIM:619795 | OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CCDC39 CL E G H | 339829 | 25244 | OMIM:613807 | Ciliary dyskinesia, primary, 14 | | | | 126 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CCDC78 CL E G H | 124093 | 14153 | OMIM:614807 | Myopathy, centronuclear, 4 | | | | 25 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CCT5 CL E G H | 22948 | 1618 | OMIM:256840 | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive | | | | 56 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CD19 CL E G H | 930 | 1633 | OMIM:613493 | IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3 | | | | 38 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CD46 CL E G H | 4179 | 6953 | OMIM:612922 | Hemolytic uremic syndrome, atypical, susceptibility to, 2 | | | | 39 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CDH2 CL E G H | 1000 | 1759 | OMIM:619957 | | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CEP78 CL E G H | 84131 | 25740 | OMIM:617236 | CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL | | | | 9 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CFAP410 CL E G H | 755 | 1260 | OMIM:602271 | Spondylometaphyseal dysplasia, axial | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CFB CL E G H | 629 | 1037 | OMIM:615561 | COMPLEMENT FACTOR B DEFICIENCY; CFBD | | | | 30 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CFI CL E G H | 3426 | 5394 | OMIM:610984 | Complement factor I deficiency | | | | 57 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CFI CL E G H | 3426 | 5394 | OMIM:612923 | Hemolytic uremic syndrome, atypical, susceptibility to, 3 | | | | 57 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CFL2 CL E G H | 1073 | 1875 | OMIM:610687 | Nemaline myopathy 7 | | | | 35 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CFTR CL E G H | 1080 | 1884 | OMIM:219700 | Cystic fibrosis | | | | 1371 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:616209 | Myopathy, isolated mitochondrial, autosomal dominant | | | | 11 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CHD2 CL E G H | 1106 | 1917 | OMIM:615369 | EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC | | | | 227 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CHKA CL E G H | 1119 | 1937 | OMIM:620023 | | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CHM CL E G H | 1121 | 1940 | OMIM:303100 | CHOROIDEREMIA | | | | 47 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CHP1 CL E G H | 11261 | 17433 | OMIM:618438 | Spastic ataxia 9, autosomal recessive | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CHRNA2 CL E G H | 1135 | 1956 | OMIM:610353 | Epilepsy, nocturnal frontal lobe, 4 | | | | 188 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CHRNA4 CL E G H | 1137 | 1958 | OMIM:600513 | Epilepsy, nocturnal frontal lobe, type 1 | | | | 225 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | | | | 139 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CIC CL E G H | 23152 | 14214 | OMIM:617600 | Mental retardation, autosomal dominant 45 | | | | 39 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CLCN1 CL E G H | 1180 | 2019 | OMIM:160800 | Myotonia congenita, autosomal dominant | | | | 133 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CLCN1 CL E G H | 1180 | 2019 | OMIM:255700 | Myotonia congenita, autosomal recessive | . | | | 133 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CLCN2 CL E G H | 1181 | 2020 | OMIM:615651 | Leukoencephalopathy with ataxia | | | | 44 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CLCN7 CL E G H | 1186 | 2025 | OMIM:611490 | Osteopetrosis, autosomal recessive 4 | | | | 102 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CLIC5 CL E G H | 53405 | 13517 | OMIM:616042 | Deafness, autosomal recessive 103 | | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CLPB CL E G H | 81570 | 30664 | OMIM:619813 | NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT; SCN9 | | | | 38 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CLRN1 CL E G H | 7401 | 12605 | OMIM:276902 | Usher syndrome, type IIIA | | | | 60 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CNGA3 CL E G H | 1261 | 2150 | OMIM:216900 | Achromatopsia 2 | | | | 82 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CNP CL E G H | 1267 | 2158 | OMIM:619071 | LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | COA8 CL E G H | 84334 | 20492 | OMIM:619061 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | COL10A1 CL E G H | 1300 | 2185 | OMIM:156500 | Metaphyseal chondrodysplasia, Schmid type | | | | 79 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | | | | 177 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:619115 | COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1 | | | | 373 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | COL1A2 CL E G H | 1278 | 2198 | OMIM:619120 | COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2 | | | | 243 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:616583 | Spondyloepiphyseal dysplasia, Stanescu type | | | | 284 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | | | | 193 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | COL6A2 CL E G H | 1292 | 2212 | OMIM:255600 | Myosclerosis, autosomal recessive | | | | 478 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | COL9A2 CL E G H | 1298 | 2218 | OMIM:600204 | Epiphyseal dysplasia, multiple, 2 | . | | | 110 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | COPA CL E G H | 1314 | 2230 | OMIM:616414 | AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK | | | | 5 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | COPB2 CL E G H | 9276 | 2232 | OMIM:619884 | | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | COQ6 CL E G H | 51004 | 20233 | OMIM:614650 | Coenzyme Q10 deficiency, primary, 6 | | | | 39 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CPA6 CL E G H | 57094 | 17245 | OMIM:614417 | Epilepsy, familial temporal lobe, 5 | | | | 49 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:255110 | Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced | | | | 101 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CRAT CL E G H | 1384 | 2342 | OMIM:617917 | Neurodegeneration with brain iron accumulation 8 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CRB1 CL E G H | 23418 | 2343 | OMIM:613835 | Leber congenital amaurosis 8 | | | | 156 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CRB1 CL E G H | 23418 | 2343 | OMIM:600105 | Retinitis pigmentosa 12 | . | | | 156 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CRB2 CL E G H | 286204 | 18688 | OMIM:616220 | Focal segmental glomerulosclerosis 9 | | | | 12 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CSF1R CL E G H | 1436 | 2433 | OMIM:618476 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | | | | 149 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CTNNBL1 CL E G H | 56259 | 15879 | OMIM:619846 | | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CTSD CL E G H | 1509 | 2529 | OMIM:610127 | Ceroid lipofuscinosis, neuronal, 10 | | | | 159 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CUBN CL E G H | 8029 | 2548 | OMIM:261100 | Megaloblastic anemia 1 | . | | | 273 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CWF19L1 CL E G H | 55280 | 25613 | OMIM:616127 | Spinocerebellar ataxia, autosomal recessive 17 | | | | 9 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CXCR2 CL E G H | 3579 | 6027 | OMIM:619407 | WHIM SYNDROME 2; WHIMS2 | | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CYB561 CL E G H | 1534 | 2571 | OMIM:618182 | Orthostatic hypotension 2 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CYBB CL E G H | 1536 | 2578 | OMIM:306400 | Chronic granulomatous disease, X-linked | | | | 111 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CYP11B1 CL E G H | 1584 | 2591 | OMIM:103900 | Glucocorticoid-Remediable aldosteronism | | | | 112 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CYP2U1 CL E G H | 113612 | 20582 | OMIM:615030 | Spastic paraplegia 56, autosomal recessive | | | | 18 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CYP3A4 CL E G H | 1576 | 2637 | OMIM:619073 | VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3 | | | | 2 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:270800 | Spastic paraplegia 5A, autosomal recessive | | | | 57 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | DAAM2 CL E G H | 23500 | 18143 | OMIM:619263 | NEPHROTIC SYNDROME, TYPE 24; NPHS24 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | DAG1 CL E G H | 1605 | 2666 | OMIM:613818 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 | | | | 108 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | DARS1 CL E G H | 1615 | 2678 | OMIM:615281 | HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | DBR1 CL E G H | 51163 | 15594 | OMIM:619441 | ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11; IIAE11 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | DDB1 CL E G H | 1642 | 2717 | OMIM:619426 | WHITE-KERNOHAN SYNDROME; WHIKERS | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | DDHD2 CL E G H | 23259 | 29106 | OMIM:615033 | Spastic paraplegia 54, autosomal recessive | | | | 29 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | DIAPH1 CL E G H | 1729 | 2876 | OMIM:124900 | Deafness, autosomal dominant 1 | . | | | 118 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | DMD CL E G H | 1756 | 2928 | OMIM:310200 | Duchenne muscular dystrophy | . | | | 1496 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | DNAH11 CL E G H | 8701 | 2942 | OMIM:611884 | CILIARY DYSKINESIA, PRIMARY, 7; CILD7 | | | | 542 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | DNAH9 CL E G H | 1770 | 2953 | OMIM:618300 | Ciliary dyskinesia, primary, 40 | | | | 18 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | DNAJC3 CL E G H | 5611 | 9439 | OMIM:616192 | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | | | | 3 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | DNAJC30 CL E G H | 84277 | 16410 | OMIM:619382 | LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | DNASE1L3 CL E G H | 1776 | 2959 | OMIM:614420 | Systemic lupus erythematosus 16 | | | | 3 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | DOK7 CL E G H | 285489 | 26594 | OMIM:254300 | Myasthenia, limb-girdle, familial | | | | 91 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | DPAGT1 CL E G H | 1798 | 2995 | OMIM:614750 | Myasthenic syndrome, congenital, 13, with tubular aggregates | | | | 38 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | DPYD CL E G H | 1806 | 3012 | OMIM:274270 | Dihydropyrimidine dehydrogenase deficiency | | | | 144 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | DSTYK CL E G H | 25778 | 29043 | OMIM:270750 | Spastic paraplegia 23 | | | | 13 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:158600 | Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant | . | | | 427 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | DZIP1L CL E G H | 199221 | 26551 | OMIM:617610 | Polycystic kidney disease 5 | | | | 4 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ECM1 CL E G H | 1893 | 3153 | OMIM:247100 | Urbach-Wiethe disease | | | | 14 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | EDAR CL E G H | 10913 | 2895 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | | | | 86 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | | | | 56 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | EFL1 CL E G H | 79631 | 25789 | OMIM:617941 | Shwachman-Diamond syndrome 2 | | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | EIF2AK2 CL E G H | 5610 | 9437 | OMIM:619687 | DYSTONIA 33; DYT33 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ELF4 CL E G H | 2000 | 3319 | OMIM:301074 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2 | | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | EMC10 CL E G H | 284361 | 27609 | OMIM:619264 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | EMD CL E G H | 2010 | 3331 | OMIM:310300 | Emery-Dreifuss muscular dystrophy 1, X-linked | . | | | 107 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | EMILIN1 CL E G H | 11117 | 19880 | OMIM:620080 | | | | | 2 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ENPP1 CL E G H | 5167 | 3356 | OMIM:615522 | Cole disease | | | | 151 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ENPP1 CL E G H | 5167 | 3356 | OMIM:613312 | Hypophosphatemic rickets, autosomal recessive, 2 | | | | 151 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | EPRS1 CL E G H | 2058 | 3418 | OMIM:617951 | Leukodystrophy, hypomyelinating, 15 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ERCC4 CL E G H | 2072 | 3436 | OMIM:278760 | Xeroderma pigmentosum, complementation group F | | | | 158 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | | | | 199 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:278800 | De Sanctis-Cacchione syndrome | | | | 199 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ERF CL E G H | 2077 | 3444 | OMIM:600775 | Craniosynostosis 4 | | | | 12 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | EXOC7 CL E G H | 23265 | 23214 | OMIM:619072 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | EXT1 CL E G H | 2131 | 3512 | OMIM:133700 | Exostoses, multiple, type I | | | | 96 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | EXT2 CL E G H | 2132 | 3513 | OMIM:133701 | Exostoses, multiple, type II | | | | 102 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | F13A1 CL E G H | 2162 | 3531 | OMIM:188050 | Thrombophiliavenous thromboembolism, included | . | | | 60 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | F2 CL E G H | 2147 | 3535 | OMIM:188050 | Thrombophiliavenous thromboembolism, included | . | | | 44 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | FA2H CL E G H | 79152 | 21197 | OMIM:612319 | Spastic paraplegia 35, autosomal recessive | | | | 76 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | FANCB CL E G H | 2187 | 3583 | OMIM:300514 | FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB | | | | 58 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | FBLN5 CL E G H | 10516 | 3602 | OMIM:619764 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H | | | | 63 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | FBLN5 CL E G H | 10516 | 3602 | OMIM:608895 | Macular degeneration, age-related, 3 | | | | 63 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | FBXO7 CL E G H | 25793 | 13586 | OMIM:260300 | Parkinson disease 15, autosomal recessive early-onset | | | | 36 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | FCGR2A CL E G H | 2212 | 3616 | OMIM:219700 | Cystic fibrosis | | | | 6 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | FCHO1 CL E G H | 23149 | 29002 | OMIM:619164 | IMMUNODEFICIENCY 76; IMD76 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | FCSK CL E G H | 197258 | 29500 | OMIM:618324 | Congenital disorder of glycosylation with defective fucosylation 2 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | FDXR CL E G H | 2232 | 3642 | OMIM:617717 | Auditory neuropathy and optic atrophy | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | FECH CL E G H | 2235 | 3647 | OMIM:177000 | Protoporphyria, erythropoietic, 1 | . | | | 145 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | FGA CL E G H | 2243 | 3661 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 47 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | FGB CL E G H | 2244 | 3662 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 62 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | FGD4 CL E G H | 121512 | 19125 | OMIM:609311 | Charcot-marie-tooth disease, type 4H | | | | 158 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | FGF14 CL E G H | 2259 | 3671 | OMIM:193003 | Nystagmus 4, congenital, autosomal dominant | | | | 47 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | FGG CL E G H | 2266 | 3694 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 34 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300280 | Uruguay faciocardiomusculoskeletal syndrome | | | | 68 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:613152 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 | | | | 184 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | FLG CL E G H | 2312 | 3748 | OMIM:146700 | ICHTHYOSIS VULGARIS | | | | 63 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | FLNC CL E G H | 2318 | 3756 | OMIM:617047 | Cardiomyopathy, familial hypertrophic, 26 | | | | 197 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | . | | | 111 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | FMR1 CL E G H | 2332 | 3775 | OMIM:300624 | Fragile X mental retardation syndrome | | | | 30 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | FOXE3 CL E G H | 2301 | 3808 | OMIM:610256 | Anterior segment dysgenesis 2 | | | | 23 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | FOXP2 CL E G H | 93986 | 13875 | OMIM:602081 | Speech-language disorder-1 | | | | 143 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | FRG1 CL E G H | 2483 | 3954 | OMIM:158900 | Facioscapulohumeral muscular dystrophy 1 | . | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | FRRS1L CL E G H | 23732 | 1362 | OMIM:616981 | Epileptic encephalopathy, early infantile, 37 | | | | 4 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | FTSJ1 CL E G H | 24140 | 13254 | OMIM:309549 | Mental retardation, X-linked 9 | | | | 13 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | G6PC1 CL E G H | 2538 | 4056 | OMIM:232200 | Glycogen storage disease ia | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | G6PD CL E G H | 2539 | 4057 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | | | | 101 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | GABRG2 CL E G H | 2566 | 4087 | OMIM:607681 | Febrile seizures, familial, 8 | . | | | 139 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | GALC CL E G H | 2581 | 4115 | OMIM:245200 | Krabbe disease | | | | 160 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | GALE CL E G H | 2582 | 4116 | OMIM:230350 | Galactose epimerase deficiency | | | | 52 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:231000 | Gaucher disease, type III | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | GBA2 CL E G H | 57704 | 18986 | OMIM:614409 | Spastic paraplegia 46, autosomal recessive | | | | 30 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | GBF1 CL E G H | 8729 | 4181 | OMIM:606483 | Charcot-Marie-Tooth disease, dominant intermediate A | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | GCDH CL E G H | 2639 | 4189 | OMIM:231670 | Glutaric acidemia I | | | | 115 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | GCH1 CL E G H | 2643 | 4193 | OMIM:128230 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | | | | 86 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | GDAP1 CL E G H | 54332 | 15968 | OMIM:607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive | | | | 108 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | GDAP1 CL E G H | 54332 | 15968 | OMIM:608340 | Charcot-Marie-Tooth disease, recessive intermediate A | . | | | 108 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | GEMIN5 CL E G H | 25929 | 20043 | OMIM:619333 | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | GFAP CL E G H | 2670 | 4235 | OMIM:203450 | Alexander disease | | | | 188 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | GFPT1 CL E G H | 2673 | 4241 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | | | | 128 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | GHR CL E G H | 2690 | 4263 | OMIM:262500 | Laron syndrome | | | | 98 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | GIMAP5 CL E G H | 55340 | 18005 | OMIM:619463 | PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:124500 | VOHWINKEL SYNDROME; VOWNKL | | | | 199 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230600 | Gm1-gangliosidosis, type II | | | | 120 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | GLRA2 CL E G H | 2742 | 4327 | OMIM:301076 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | GMPPB CL E G H | 29925 | 22932 | OMIM:615352 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 | | | | 34 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619464 | SICK SINUS SYNDROME 4; SSS4 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252600 | Mucolipidosis III alpha/beta | | | | 240 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | GON7 CL E G H | 84520 | 20356 | OMIM:619603 | GALLOWAY-MOWAT SYNDROME 9; GAMOS9 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | GOSR2 CL E G H | 9570 | 4431 | OMIM:614018 | Epilepsy, progressive myoclonic, 6 | | | | 88 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | GPIHBP1 CL E G H | 338328 | 24945 | OMIM:615947 | Hyperlipoproteinemia, type ID | | | | 12 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | GPR101 CL E G H | 83550 | 14963 | OMIM:300942 | Chromosome Xq26.3 duplication syndrome | | | | 5 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | GRXCR2 CL E G H | 643226 | 33862 | OMIM:615837 | Deafness, autosomal recessive 101 | | | | 3 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | GTPBP2 CL E G H | 54676 | 4670 | OMIM:617988 | Jaberi-Elahi syndrome | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | GUCY2D CL E G H | 3000 | 4689 | OMIM:601777 | Cone-Rod dystrophy 6 | . | | | 124 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | GYG1 CL E G H | 2992 | 4699 | OMIM:616199 | Polyglucosan body myopathy 2 | | | | 18 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | HABP2 CL E G H | 3026 | 4798 | OMIM:188050 | Thrombophiliavenous thromboembolism, included | . | | | 58 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | HAVCR2 CL E G H | 84868 | 18437 | OMIM:618398 | T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | HAX1 CL E G H | 10456 | 16915 | OMIM:610738 | NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 | | | | 32 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | HCN1 CL E G H | 348980 | 4845 | OMIM:615871 | Epileptic encephalopathy, early infantile, 24 | | | | 54 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | HDAC4 CL E G H | 9759 | 14063 | OMIM:619797 | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF | | | | 33 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | HEPACAM CL E G H | 220296 | 26361 | OMIM:613925 | Megalencephalic leukoencephalopathy with subcortical cysts 2A | | | | 82 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | HGSNAT CL E G H | 138050 | 26527 | OMIM:252930 | Mucopolysaccharidosis type IIIC | | | | 86 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | HINT1 CL E G H | 3094 | 4912 | OMIM:137200 | Neuromyotonia and axonal neuropathy, autosomal recessive | | | | 12 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:617460 | Retinitis pigmentosa 79 | | | | 11 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | HPDL CL E G H | 84842 | 28242 | OMIM:619026 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | HPRT1 CL E G H | 3251 | 5157 | OMIM:300322 | Lesch-Nyhan syndrome | | | | 76 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | HSD11B2 CL E G H | 3291 | 5209 | OMIM:218030 | Apparent mineralocorticoid excess | | | | 14 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | | | | 345 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | HYAL1 CL E G H | 3373 | 5320 | OMIM:601492 | Mucopolysaccharidosis type IX | | | | 28 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | HYDIN CL E G H | 54768 | 19368 | OMIM:608647 | Ciliary dyskinesia, primary, 5 | | | | 21 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | | | | 32 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | IDH3A CL E G H | 3419 | 5384 | OMIM:619007 | RETINITIS PIGMENTOSA 90; RP90 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | | | | 86 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607015 | Hurler-Scheie syndrome | | | | 115 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:182250 | Singleton-Merten syndrome 1 | | | | 28 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:617781 | Retinitis pigmentosa 80 | | | | 148 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | IGHM CL E G H | 3507 | 5541 | OMIM:601495 | Agammaglobulinemia 1, autosomal recessive | | | | 7 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | IKZF1 CL E G H | 10320 | 13176 | OMIM:616873 | IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13 | | | | 8 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | IL11RA CL E G H | 3590 | 5967 | OMIM:614188 | Craniosynostosis and dental anomalies | | | | 8 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | IL17RC CL E G H | 84818 | 18358 | OMIM:616445 | Candidiasis, familial, 9 | | | | 4 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | IL21R CL E G H | 50615 | 6006 | OMIM:615207 | IMMUNODEFICIENCY 56; IMD56 | | | | 7 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | IL36RN CL E G H | 26525 | 15561 | OMIM:614204 | PSORIASIS 14, PUSTULAR; PSORS14 | | | | 51 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:619752 | HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | IMPDH1 CL E G H | 3614 | 6052 | OMIM:180105 | Retinitis pigmentosa 10 | | | | 52 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | IMPG2 CL E G H | 50939 | 18362 | OMIM:613581 | RETINITIS PIGMENTOSA 56; RP56 | | | | 120 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | INPP5K CL E G H | 51763 | 33882 | OMIM:617404 | Muscular dystrophy, congenital, with cataracts and intellectual disability | | | | 7 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | INSR CL E G H | 3643 | 6091 | OMIM:609968 | Hyperinsulinemic hypoglycemia, familial, 5 | | | | 229 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | IRF2BPL CL E G H | 64207 | 14282 | OMIM:618088 | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | IRF7 CL E G H | 3665 | 6122 | OMIM:616345 | Immunodeficiency 39 | | | | 2 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | IRF8 CL E G H | 3394 | 5358 | OMIM:614893 | IMMUNODEFICIENCY 32A; IMD32A | | | | 5 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ISCU CL E G H | 23479 | 29882 | OMIM:255125 | Myopathy with exercise intolerance, Swedish type | | | | 19 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ITK CL E G H | 3702 | 6171 | OMIM:613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | | | | 51 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | | | | 257 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:619574 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH | | | | 257 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | JAG2 CL E G H | 3714 | 6189 | OMIM:619566 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27 | | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | KANK2 CL E G H | 25959 | 29300 | OMIM:617783 | Nephrotic syndrome, type 16 | | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | KBTBD13 CL E G H | 390594 | 37227 | OMIM:609273 | Nemaline myopathy 6 | | | | 80 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | KCNA2 CL E G H | 3737 | 6220 | OMIM:616366 | Epileptic encephalopathy, early infantile, 32 | | | | 13 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | KCNB1 CL E G H | 3745 | 6231 | OMIM:616056 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26 | | | | 65 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | KCNH2 CL E G H | 3757 | 6251 | OMIM:613688 | Long QT syndrome 2 | | | | 901 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | KCNN2 CL E G H | 3781 | 6291 | OMIM:619725 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:192500 | LONG QT SYNDROME 1; LQT1 | | | | 730 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | KCNQ5 CL E G H | 56479 | 6299 | OMIM:617601 | Mental retardation, autosomal dominant 46 | | | | 5 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | KCNT1 CL E G H | 57582 | 18865 | OMIM:615005 | Epilepsy, nocturnal frontal lobe, 5 | | | | 321 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | KCTD17 CL E G H | 79734 | 25705 | OMIM:616398 | Dystonia 26, myoclonic | | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | KDELR2 CL E G H | 11014 | 6305 | OMIM:619131 | OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | KDM5C CL E G H | 8242 | 11114 | OMIM:300534 | Mental retardation, X-linked, syndromic, Claes-Jensen type | | | | 81 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | KERA CL E G H | 11081 | 6309 | OMIM:217300 | Cornea plana 2 | | | | 8 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | KIF12 CL E G H | 113220 | 21495 | OMIM:619662 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8 | | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | KIF3B CL E G H | 9371 | 6320 | OMIM:618955 | RETINITIS PIGMENTOSA 89; RP89 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | KIRREL1 CL E G H | 55243 | 15734 | OMIM:619201 | NEPHROTIC SYNDROME, TYPE 23; NPHS23 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | KLC2 CL E G H | 64837 | 20716 | OMIM:609541 | Spastic paraplegia, optic atrophy, and neuropathy | | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | KMT2B CL E G H | 9757 | 15840 | OMIM:617284 | Dystonia 28, childhood-onset | | | | 11 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | KPTN CL E G H | 11133 | 6404 | OMIM:615637 | Mental retardation, autosomal recessive 41 | | | | 13 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | KRT1 CL E G H | 3848 | 6412 | OMIM:607654 | KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3 | | | | 100 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | KRT14 CL E G H | 3861 | 6416 | OMIM:131760 | Epidermolysis bullosa simplex, Dowling-Meara type | | | | 110 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | KRT14 CL E G H | 3861 | 6416 | OMIM:131800 | Epidermolysis bullosa simplex, Weber-Cockayne type | | | | 110 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:131960 | Epidermolysis bullosa simplex with mottled pigmentation | | | | 173 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:131760 | Epidermolysis bullosa simplex, Dowling-Meara type | | | | 173 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | KRT74 CL E G H | 121391 | 28929 | OMIM:613981 | Hypotrichosis 3 | | | | 5 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | LACC1 CL E G H | 144811 | 26789 | OMIM:618795 | JUVENILE ARTHRITIS; JUVAR | | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | LAMA2 CL E G H | 3908 | 6482 | OMIM:618138 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23 | | | | 411 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620049 | | | | | 5 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | LEP CL E G H | 3952 | 6553 | OMIM:614962 | Leptin deficiency or dysfunction | | | | 47 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:620089 | | | | | 2 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | LGI3 CL E G H | 203190 | 18711 | OMIM:620007 | | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | LIG1 CL E G H | 3978 | 6598 | OMIM:619774 | IMMUNODEFICIENCY 96; IMD96 | | | | 9 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | LIG3 CL E G H | 3980 | 6600 | OMIM:619780 | MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20 | | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | LIMS2 CL E G H | 55679 | 16084 | OMIM:616827 | Muscular dystrophy, limb-girdle, type 2W | | | | 10 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | LIPN CL E G H | 643418 | 23452 | OMIM:613943 | Ichthyosis, congenital, autosomal recessive 8 | | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | LMBRD1 CL E G H | 55788 | 23038 | OMIM:277380 | Methylmalonic aciduria and homocystinuria, Cblf type | | | | 46 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:616516 | Emery-Dreifuss muscular dystrophy 3, autosomal recessive | | | | 645 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:151660 | Lipodystrophy, familial partial, type 2 | | | | 645 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:248370 | Mandibuloacral dysplasia | | | | 645 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | LOXL3 CL E G H | 84695 | 13869 | OMIM:619781 | MYOPIA 28, AUTOSOMAL RECESSIVE; MYP28 | | | | 4 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | LPIN1 CL E G H | 23175 | 13345 | OMIM:268200 | Rhabdomyolysis, acute recurrent | | | | 95 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | LRIG2 CL E G H | 9860 | 20889 | OMIM:615112 | Urofacial syndrome 2 | | | | 5 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | LYRM7 CL E G H | 90624 | 28072 | OMIM:615838 | Mitochondrial complex III deficiency, nuclear type 8 | | | | 10 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | MACF1 CL E G H | 23499 | 13664 | OMIM:618325 | Lissencephaly 9 with complex brainstem malformation | | | | 2 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | MAD2L2 CL E G H | 10459 | 6764 | OMIM:617243 | Fanconi anemia, complementation group V | | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | MAFB CL E G H | 9935 | 6408 | OMIM:166300 | Multicentric carpotarsal osteolysis syndrome | | | | 63 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | MAG CL E G H | 4099 | 6783 | OMIM:616680 | Spastic paraplegia 75, autosomal recessive | | | | 4 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | MAP2K2 CL E G H | 5605 | 6842 | OMIM:615280 | Cardiofaciocutaneous syndrome 4 | | | | 178 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | MAPK8IP3 CL E G H | 23162 | 6884 | OMIM:618443 | Neurodevelopmental disorder with or without variable brain abnormalities | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | MARCHF6 CL E G H | 10299 | 30550 | OMIM:613608 | Epilepsy, familial adult myoclonic, 3 | . | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | MARS1 CL E G H | 4141 | 6898 | OMIM:615486 | Interstitial lung and liver disease | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | MARS2 CL E G H | 92935 | 25133 | OMIM:611390 | Spastic ataxia 3, autosomal recessive | | | | 25 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | MCM3AP CL E G H | 8888 | 6946 | OMIM:618124 | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | | | | 3 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | MCM6 CL E G H | 4175 | 6949 | OMIM:223100 | LACTOSE INTOLERANCE, ADULT TYPE | | | | 5 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300496 | Autism susceptibility, X-linked 3 | . | | | 950 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:312750 | Rett syndrome | | | | 950 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | MECR CL E G H | 51102 | 19691 | OMIM:617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | | | | 6 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | MEFV CL E G H | 4210 | 6998 | OMIM:249100 | Familial Mediterranean fever, AR | | | | 281 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | MEFV CL E G H | 4210 | 6998 | OMIM:608068 | NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE | | | | 281 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | MERTK CL E G H | 10461 | 7027 | OMIM:613862 | Retinitis pigmentosa 38 | | | | 75 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | MLIP CL E G H | 90523 | 21355 | OMIM:620138 | | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | MLPH CL E G H | 79083 | 29643 | OMIM:609227 | Griscelli syndrome, type 3 | | | | 7 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | MMP14 CL E G H | 4323 | 7160 | OMIM:277950 | Winchester syndrome | | | | 2 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | MMP2 CL E G H | 4313 | 7166 | OMIM:259600 | Multicentric osteolysis, nodulosis, and arthropathy | | | | 64 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | MOCOS CL E G H | 55034 | 18234 | OMIM:603592 | Xanthinuria, type II | | | | 4 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | MPZL2 CL E G H | 10205 | 3496 | OMIM:618145 | Deafness, autosomal recessive 111 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | MS4A1 CL E G H | 931 | 7315 | OMIM:613495 | Immunodeficiency, common variable, 5 | | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | MSMO1 CL E G H | 6307 | 10545 | OMIM:616834 | Microcephaly, congenital cataract, and psoriasiform dermatitis | | | | 3 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | MSX1 CL E G H | 4487 | 7391 | OMIM:106600 | Tooth agenesis, selective, 1 | | | | 12 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | MTHFR CL E G H | 4524 | 7436 | OMIM:188050 | Thrombophiliavenous thromboembolism, included | . | | | 183 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | MTRFR CL E G H | 91574 | 26784 | OMIM:613559 | Combined oxidative phosphorylation deficiency 7 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | MTX2 CL E G H | 10651 | 7506 | OMIM:619127 | MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:613426 | Cardiomyopathy, dilated, 1S | | | | 1269 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:160500 | Myopathy, distal, 1 | . | | | 1269 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:608358 | Myopathy, myosin storage | | | | 1269 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | MYO5B CL E G H | 4645 | 7603 | OMIM:619868 | | | | | 192 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | MYPN CL E G H | 84665 | 23246 | OMIM:617336 | Nemaline myopathy 11, autosomal recessive | | | | 217 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | NAXD CL E G H | 55739 | 25576 | OMIM:618321 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | NAXE CL E G H | 128240 | 18453 | OMIM:617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | | | | 9 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | NBEA CL E G H | 26960 | 7648 | OMIM:619157 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE | | | | 3 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | NDP CL E G H | 4693 | 7678 | OMIM:305390 | Exudative vitreoretinopathy 2, X-linked | | | | 39 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | NDST1 CL E G H | 3340 | 7680 | OMIM:616116 | Mental retardation, autosomal recessive 46 | | | | 27 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | NDUFA6 CL E G H | 4700 | 7690 | OMIM:618253 | Mitochondrial complex I deficiency, nuclear type 33 | | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | NDUFAF6 CL E G H | 137682 | 28625 | OMIM:618239 | Mitochondrial complex I deficiency, nuclear type 17 | | | | 39 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | NDUFC2 CL E G H | 4718 | 7706 | OMIM:619170 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | NEFL CL E G H | 4747 | 7739 | OMIM:607684 | Charcot-Marie-Tooth disease, axonal, type 2E | | | | 118 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | NEFL CL E G H | 4747 | 7739 | OMIM:607734 | Charcot-Marie-Tooth disease, demyelinating, type 1F | | | | 118 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | NEMF CL E G H | 9147 | 10663 | OMIM:619099 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN | | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:162200 | Neurofibromatosis, type I | | | | 1952 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:614753 | Sotos syndrome 2 | | | | 40 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | NFKB1 CL E G H | 4790 | 7794 | OMIM:616576 | IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12 | | | | 7 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | NFKB2 CL E G H | 4791 | 7795 | OMIM:615577 | Immunodeficiency, common variable, 10 | | | | 11 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | NFU1 CL E G H | 27247 | 16287 | OMIM:605711 | Multiple mitochondrial dysfunctions syndrome 1 | | | | 34 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:118700 | Chorea, benign hereditary | | | | 51 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | NKX6-2 CL E G H | 84504 | 19321 | OMIM:617560 | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | | | | 2 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | NLGN3 CL E G H | 54413 | 14289 | OMIM:300425 | Autism susceptibility, X-linked 1 | . | | | 24 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | NLGN4X CL E G H | 57502 | 14287 | OMIM:300495 | Autism, susceptibility to, X-linked 2 | . | | | 57 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:607115 | CINCA SYNDROME; CINCA | | | | 217 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:191900 | Muckle-Wells syndrome | | | | 217 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:608553 | Leber congenital amaurosis 9 | | | | 15 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | NPC2 CL E G H | 10577 | 14537 | OMIM:607625 | Niemann-pick disease, type C2 | | | | 33 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | NPHS2 CL E G H | 7827 | 13394 | OMIM:600995 | Nephrotic syndrome, type 2 | | | | 69 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | NR0B1 CL E G H | 190 | 7960 | OMIM:300200 | Adrenal hypoplasia, congenital | | | | 48 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | NR4A2 CL E G H | 4929 | 7981 | OMIM:619911 | | | | | 27 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | NSD1 CL E G H | 64324 | 14234 | OMIM:117550 | Sotos syndrome 1 | | | | 544 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | NUBPL CL E G H | 80224 | 20278 | OMIM:618242 | Mitochondrial complex I deficiency, nuclear type 21 | | | | 89 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | NUP133 CL E G H | 55746 | 18016 | OMIM:618177 | NEPHROTIC SYNDROME, TYPE 18; NPHS18 | | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | NUP62 CL E G H | 23636 | 8066 | OMIM:271930 | Striatonigral degeneration, infantile | | | | 7 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | NUS1 CL E G H | 116150 | 21042 | OMIM:617831 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55 | | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | OAT CL E G H | 4942 | 8091 | OMIM:258870 | Ornithine aminotransferase deficiency | | | | 94 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | OCRL CL E G H | 4952 | 8108 | OMIM:300555 | Dent disease 2 | . | | | 88 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300424 | Retinitis pigmentosa 23 | | | | 201 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:210000 | Behr syndrome | | | | 214 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:125250 | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | | | | 214 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | OTC CL E G H | 5009 | 8512 | OMIM:311250 | Ornithine transcarbamylase deficiency, hyperammonemia due to | | | | 369 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | P3H2 CL E G H | 55214 | 19317 | OMIM:614292 | Myopia, high, with cataract and vitreoretinal degeneration | | | | 5 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PADI3 CL E G H | 51702 | 18337 | OMIM:191480 | UNCOMBABLE HAIR SYNDROME 1; UHS1 | | | | 3 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PANK2 CL E G H | 80025 | 15894 | OMIM:234200 | Neurodegeneration with brain iron accumulation 1 | | | | 55 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PANK4 CL E G H | 55229 | 19366 | OMIM:619593 | CATARACT 49; CTRCT49 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PDE6B CL E G H | 5158 | 8786 | OMIM:613801 | Retinitis pigmentosa 40 | | | | 126 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PDE6G CL E G H | 5148 | 8789 | OMIM:613582 | Retinitis pigmentosa 57 | | | | 18 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PDGFB CL E G H | 5155 | 8800 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | | | | 9 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | | | | 28 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PEPD CL E G H | 5184 | 8840 | OMIM:170100 | Prolidase deficiency | | | | 66 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PET117 CL E G H | 100303755 | 40045 | OMIM:619063 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PEX10 CL E G H | 5192 | 8851 | OMIM:614871 | Peroxisome biogenesis disorder 6B | | | | 75 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PEX16 CL E G H | 9409 | 8857 | OMIM:614877 | Peroxisome biogenesis disorder 8B | | | | 59 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PGAP1 CL E G H | 80055 | 25712 | OMIM:615802 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42 | | | | 20 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PHKA2 CL E G H | 5256 | 8926 | OMIM:306000 | Glycogen storage disease ixa | | | | 54 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PHKB CL E G H | 5257 | 8927 | OMIM:261750 | Glycogen storage disease ixb | | | | 101 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PHKG2 CL E G H | 5261 | 8931 | OMIM:613027 | Glycogen storage disease IXc | | | | 48 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PI4KA CL E G H | 5297 | 8983 | OMIM:619708 | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2 | | | | 11 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PIDD1 CL E G H | 55367 | 16491 | OMIM:619827 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PIGM CL E G H | 93183 | 18858 | OMIM:610293 | Glycosylphosphatidylinositol deficiency | | | | 6 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PIK3CD CL E G H | 5293 | 8977 | OMIM:619281 | IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B | | | | 9 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PITPNM3 CL E G H | 83394 | 21043 | OMIM:600977 | Cone-Rod dystrophy 5 | | | | 135 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PITRM1 CL E G H | 10531 | 17663 | OMIM:619405 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30 | | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PKHD1 CL E G H | 5314 | 9016 | OMIM:263200 | Polycystic kidney disease 4 with or without polycystic liver disease | | | | 563 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PKLR CL E G H | 5313 | 9020 | OMIM:266200 | Pyruvate kinase deficiency of red cells | | | | 51 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:256600 | Neurodegeneration with brain iron accumulation 2A | | | | 133 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:610217 | Neurodegeneration with brain iron accumulation 2B | . | | | 133 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PLCE1 CL E G H | 51196 | 17175 | OMIM:610725 | Nephrotic syndrome, type 3 | . | | | 118 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PLCG2 CL E G H | 5336 | 9066 | OMIM:614468 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3 | | | | 21 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:616487 | Epidermolysis bullosa simplex with nail dystrophy | | | | 759 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:613723 | Muscular dystrophy, limb-girdle, type 2Q | | | | 759 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PLEKHG5 CL E G H | 57449 | 29105 | OMIM:611067 | Spinal muscular atrophy, distal, autosomal recessive, 4 | . | | | 186 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PLEKHM1 CL E G H | 9842 | 29017 | OMIM:618107 | OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3 | | | | 2 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PLP1 CL E G H | 5354 | 9086 | OMIM:312920 | Spastic paraplegia 2, X-linked | | | | 60 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PLXNA1 CL E G H | 5361 | 9099 | OMIM:619955 | | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | | | | 150 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:118300 | Charcot-Marie-Tooth disease and deafness | . | | | 79 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PNKD CL E G H | 25953 | 9153 | OMIM:118800 | Paroxysmal nonkinesigenic dyskinesia 1 | . | | | 66 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PNPT1 CL E G H | 87178 | 23166 | OMIM:614934 | DEAFNESS, AUTOSOMAL RECESSIVE 70; DFNB70 | | | | 60 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | POC1B CL E G H | 282809 | 30836 | OMIM:615973 | Cone-Rod dystrophy 20 | | | | 3 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | POLA1 CL E G H | 5422 | 9173 | OMIM:301220 | PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR | | | | 2 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | POLR1C CL E G H | 9533 | 20194 | OMIM:616494 | Leukodystrophy, hypomyelinating, 11 | | | | 38 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | | | | 138 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:619742 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I | | | | 67 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | | | | 67 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:614381 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | | | | 67 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PPA2 CL E G H | 27068 | 28883 | OMIM:617222 | Sudden cardiac failure, infantile | | | | 8 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PPCS CL E G H | 79717 | 25686 | OMIM:618189 | Cardiomyopathy, dilated, 2C | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PPP3CA CL E G H | 5530 | 9314 | OMIM:617711 | Epileptic encephalopathy, infantile or early childhood, 1 | | | | 2 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PRDM12 CL E G H | 59335 | 13997 | OMIM:616488 | Neuropathy, hereditary sensory and autonomic, type VIII | | | | 6 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PRKAG2 CL E G H | 51422 | 9386 | OMIM:194200 | WOLFF-PARKINSON-WHITE SYNDROME | | | | 235 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619636 | ACROMESOMELIC DYSPLASIA 4; AMD4 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619638 | SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PRKRA CL E G H | 8575 | 9438 | OMIM:612067 | Dystonia 16 | | | | 37 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:600072 | Fatal familial insomnia | . | | | 69 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PROM1 CL E G H | 8842 | 9454 | OMIM:612095 | RETINITIS PIGMENTOSA 41; RP41 | | | | 110 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PRPF8 CL E G H | 10594 | 17340 | OMIM:600059 | Retinitis pigmentosa 13 | | | | 94 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PRPS1 CL E G H | 5631 | 9462 | OMIM:311070 | Charcot-Marie-Tooth disease, X-linked recessive, 5 | . | | | 49 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PRSS12 CL E G H | 8492 | 9477 | OMIM:249500 | Mental retardation, autosomal recessive 1 | | | | 73 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PRX CL E G H | 57716 | 13797 | OMIM:614895 | Charcot-Marie-Tooth disease, demyelinating, type 4F | | | | 170 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PSMD12 CL E G H | 5718 | 9557 | OMIM:617516 | Stankiewicz-Isidor syndrome | | | | 4 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PURA CL E G H | 5813 | 9701 | OMIM:616158 | Mental retardation, autosomal dominant 31 | | | | 53 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PUS7 CL E G H | 54517 | 26033 | OMIM:618342 | Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PYGM CL E G H | 5837 | 9726 | OMIM:232600 | Glycogen storage disease V | | | | 166 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | PYROXD1 CL E G H | 79912 | 26162 | OMIM:617258 | MYOPATHY, MYOFIBRILLAR, 8; MFM8 | | | | 5 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | RAC1 CL E G H | 5879 | 9801 | OMIM:617751 | Mental retardation, autosomal dominant 48 | | | | 3 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | RACGAP1 CL E G H | 29127 | 9804 | OMIM:619789 | ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIb, AUTOSOMAL RECESSIVE; CDAN3B | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | RAF1 CL E G H | 5894 | 9829 | OMIM:615916 | Cardiomyopathy, dilated, 1nn | | | | 212 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | RAX2 CL E G H | 84839 | 18286 | OMIM:620102 | | | | | 52 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | RDH12 CL E G H | 145226 | 19977 | OMIM:612712 | Leber congenital amaurosis 13 | | | | 45 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | REEP1 CL E G H | 65055 | 25786 | OMIM:610250 | Spastic paraplegia 31, autosomal dominant | | | | 87 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | REST CL E G H | 5978 | 9966 | OMIM:616806 | WILMS TUMOR 6; WT6 | | | | 7 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | RHO CL E G H | 6010 | 10012 | OMIM:610445 | Night blindness, congenital stationary, autosomal dominant 1 | | | | 107 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | RHO CL E G H | 6010 | 10012 | OMIM:613731 | Retinitis pigmentosa 4 | | | | 107 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | RIPOR2 CL E G H | 9750 | 13872 | OMIM:607017 | Deafness, autosomal dominant 21 | | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | | | | 37 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:250460 | Metaphyseal dysplasia without hypotrichosis | | | | 37 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | RNF170 CL E G H | 81790 | 25358 | OMIM:619686 | SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85 | | | | 3 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | RNF220 CL E G H | 55182 | 25552 | OMIM:619688 | LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23 | | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | RORB CL E G H | 6096 | 10259 | OMIM:618357 | Epilepsy, idiopathic generalized, susceptibility to, 15 | | | | 3 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | RP1 CL E G H | 6101 | 10263 | OMIM:180100 | Retinitis pigmentosa 1 | | | | 111 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | RP2 CL E G H | 6102 | 10274 | OMIM:312600 | Retinitis pigmentosa 2, X-linked | | | | 45 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | RPE65 CL E G H | 6121 | 10294 | OMIM:613794 | Retinitis pigmentosa 20 | | | | 129 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | RPGR CL E G H | 6103 | 10295 | OMIM:300029 | Retinitis pigmentosa 3 | | | | 200 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | RPS26 CL E G H | 6231 | 10414 | OMIM:613309 | Diamond-blackfan anemia 10 | | | | 20 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | RPS29 CL E G H | 6235 | 10419 | OMIM:615909 | Diamond-Blackfan anemia 13 | . | | | 3 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | RRM2B CL E G H | 50484 | 17296 | OMIM:268315 | ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION | | | | 125 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | RSPH9 CL E G H | 221421 | 21057 | OMIM:612650 | CILIARY DYSKINESIA, PRIMARY, 12; CILD12 | | | | 20 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | RTN4IP1 CL E G H | 84816 | 18647 | OMIM:616732 | OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10 | | | | 2 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:619542 | KING-DENBOROUGH SYNDROME; KDS | | | | 1200 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:255320 | Minicore myopathy with external ophthalmoplegia | | | | 1200 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | RYR2 CL E G H | 6262 | 10484 | OMIM:604772 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1 | | | | 1103 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SAMD9 CL E G H | 54809 | 1348 | OMIM:619041 | MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2 | | | | 8 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SBF2 CL E G H | 81846 | 2135 | OMIM:604563 | Charcot-Marie-Tooth disease, type 4B2 | | | | 180 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SCAPER CL E G H | 49855 | 13081 | OMIM:618195 | Intellectual developmental disorder and retinitis pigmentosa | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SCN1A CL E G H | 6323 | 10585 | OMIM:604403 | Generalized epilepsy with febrile seizures plus, type 2 | . | | | 1053 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SCN3A CL E G H | 6328 | 10590 | OMIM:617935 | Epilepsy, familial focal, with variable foci 4 | | | | 70 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SCN3A CL E G H | 6328 | 10590 | OMIM:617938 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62 | | | | 70 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SCN4B CL E G H | 6330 | 10592 | OMIM:611819 | Long QT syndrome 10 | | | | 110 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SCN5A CL E G H | 6331 | 10593 | OMIM:603830 | Long QT syndrome 3 | | | | 1134 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SCN5A CL E G H | 6331 | 10593 | OMIM:608567 | SICK SINUS SYNDROME 1; SSS1 | | | | 1134 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SCN8A CL E G H | 6334 | 10596 | OMIM:614306 | Cognitive impairment with or without cerebellar ataxia | | | | 357 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SDHB CL E G H | 6390 | 10681 | OMIM:619224 | MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4 | | | | 237 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SEC23B CL E G H | 10483 | 10702 | OMIM:224100 | Anemia, dyserythropoietic congenital, type II | | | | 60 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SERPING1 CL E G H | 710 | 1228 | OMIM:106100 | Angioedema, hereditary, 1 | | | | 64 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SETD1A CL E G H | 9739 | 29010 | OMIM:619056 | NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID | | | | 6 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SFRP4 CL E G H | 6424 | 10778 | OMIM:265900 | Pyle disease | | | | 3 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SGCD CL E G H | 6444 | 10807 | OMIM:601287 | Muscular dystrophy, limb-girdle, type 2F | | | | 223 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SGCG CL E G H | 6445 | 10809 | OMIM:253700 | Muscular dystrophy, limb-girdle, type 2C | | | | 83 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SGPL1 CL E G H | 8879 | 10817 | OMIM:617575 | Nephrotic syndrome, type 14 | | | | 8 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SGSH CL E G H | 6448 | 10818 | OMIM:252900 | Mucopolysaccharidosis type IIIA | | | | 97 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 37 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SH3BP2 CL E G H | 6452 | 10825 | OMIM:118400 | Cherubism | | | | 177 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SH3TC2 CL E G H | 79628 | 29427 | OMIM:601596 | Charcot-Marie-Tooth disease, type 4C | | | | 493 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:620068 | | | | | 163 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SLC13A3 CL E G H | 64849 | 14430 | OMIM:618384 | Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate | | | | 2 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SLC16A1 CL E G H | 6566 | 10922 | OMIM:616095 | Monocarboxylate transporter 1 deficiency | | | | 74 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SLC19A2 CL E G H | 10560 | 10938 | OMIM:249270 | Thiamine-Responsive megaloblastic anemia syndrome | | | | 55 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SLC19A3 CL E G H | 80704 | 16266 | OMIM:607483 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | | | | 110 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SLC20A2 CL E G H | 6575 | 10947 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | | | | 70 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SLC22A5 CL E G H | 6584 | 10969 | OMIM:212140 | Carnitine deficiency, systemic primary | | | | 207 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SLC25A19 CL E G H | 60386 | 14409 | OMIM:613710 | Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type) | | | | 36 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SLC30A9 CL E G H | 10463 | 1329 | OMIM:617595 | Birk-Landau-Perez syndrome | | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SLC34A2 CL E G H | 10568 | 11020 | OMIM:265100 | Pulmonary alveolar microlithiasis | | | | 7 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SLC38A3 CL E G H | 10991 | 18044 | OMIM:619881 | | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SLC39A4 CL E G H | 55630 | 17129 | OMIM:201100 | Acrodermatitis enteropathica, Zinc-Deficiency type | | | | 55 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SLC39A7 CL E G H | 7922 | 4927 | OMIM:619693 | AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SLC4A4 CL E G H | 8671 | 11030 | OMIM:604278 | Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation | | | | 89 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SMPD1 CL E G H | 6609 | 11120 | OMIM:607616 | Niemann-pick disease, type B | | | | 164 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SMPX CL E G H | 23676 | 11122 | OMIM:300066 | Deafness, X-linked 4 | . | | | 12 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SNORD118 CL E G H | 727676 | 32952 | OMIM:614561 | Leukoencephalopathy, brain calcifications, and cysts | | | | 6 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SNRPN CL E G H | 6638 | 11164 | OMIM:209850 | Autism susceptibility 1 | . | | | 37 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SNX14 CL E G H | 57231 | 14977 | OMIM:616354 | Spinocerebellar ataxia, autosomal recessive 20 | | | | 14 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SOCS1 CL E G H | 8651 | 19383 | OMIM:619375 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD | | | | 6 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SOX11 CL E G H | 6664 | 11191 | OMIM:615866 | Mental retardation, autosomal dominant 27 | | | | 14 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SPART CL E G H | 23111 | 18514 | OMIM:275900 | Spastic paraplegia 20, autosomal recessive | . | | | 66 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SPATA5L1 CL E G H | 79029 | 28762 | OMIM:619615 | DEAFNESS, AUTOSOMAL RECESSIVE 119; DFNB119 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SPG11 CL E G H | 80208 | 11226 | OMIM:604360 | Spastic paraplegia 11, autosomal recessive | . | | | 287 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SPTLC2 CL E G H | 9517 | 11278 | OMIM:613640 | Neuropathy, hereditary sensory and autonomic, type IC | | | | 149 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | STAT1 CL E G H | 6772 | 11362 | OMIM:614162 | Immunodeficiency 31C | | | | 89 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | STAT2 CL E G H | 6773 | 11363 | OMIM:616636 | Immunodeficiency 44 | | | | 9 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | STAT3 CL E G H | 6774 | 11364 | OMIM:615952 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1 | | | | 110 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | STEAP3 CL E G H | 55240 | 24592 | OMIM:615234 | Anemia, hypochromic microcytic, with iron overload 2 | | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | STK11 CL E G H | 6794 | 11389 | OMIM:175200 | Peutz-Jeghers syndrome | | | | 740 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | STS CL E G H | 412 | 11425 | OMIM:308100 | Ichthyosis, X-linked | | | | 19 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | STT3A CL E G H | 3703 | 6172 | OMIM:619714 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD | | | | 21 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | STX11 CL E G H | 8676 | 11429 | OMIM:603552 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 | | | | 85 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | STXBP2 CL E G H | 6813 | 11445 | OMIM:613101 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5 | | | | 70 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SVIL CL E G H | 6840 | 11480 | OMIM:619040 | MYOFIBRILLAR MYOPATHY 10; MFM10 | | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SYNE1 CL E G H | 23345 | 17089 | OMIM:612998 | Emery-Dreifuss muscular dystrophy 4, autosomal dominant | . | | | 1129 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SYNE2 CL E G H | 23224 | 17084 | OMIM:612999 | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | . | | | 508 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | SYT2 CL E G H | 127833 | 11510 | OMIM:616040 | Myasthenic syndrome, congenital, 7, presynaptic | | | | 4 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TACO1 CL E G H | 51204 | 24316 | OMIM:619052 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8 | | | | 23 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TACSTD2 CL E G H | 4070 | 11530 | OMIM:204870 | Corneal dystrophy, gelatinous drop-like | . | | | 42 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:608105 | Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp | | | | 271 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TBC1D2B CL E G H | 23102 | 29183 | OMIM:619323 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TBCE CL E G H | 6905 | 11582 | OMIM:617207 | ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO | | | | 52 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TBX18 CL E G H | 9096 | 11595 | OMIM:143400 | Congenital anomalies of kidney and urinary tract 2 | | | | 5 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TCF4 CL E G H | 6925 | 11634 | OMIM:610954 | Pitt-Hopkins syndrome | | | | 241 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TECRL CL E G H | 253017 | 27365 | OMIM:614021 | Ventricular tachycardia, catecholaminergic polymorphic, 3 | | | | 4 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TFG CL E G H | 10342 | 11758 | OMIM:615658 | Spastic paraplegia 57, autosomal recessive | | | | 18 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:219700 | Cystic fibrosis | | | | 13 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | THRB CL E G H | 7068 | 11799 | OMIM:188570 | Thyroid hormone resistance, generalized, autosomal dominant | | | | 161 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TIAM1 CL E G H | 7074 | 11805 | OMIM:619908 | | | | | 2 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TIMM8A CL E G H | 1678 | 11817 | OMIM:304700 | Mohr-Tranebjaerg syndrome | . | | | 15 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:613990 | Dyskeratosis congenita, autosomal dominant 3 | | | | 60 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:268130 | Revesz syndrome | | | | 60 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TK2 CL E G H | 7084 | 11831 | OMIM:609560 | Mitochondrial DNA depletion syndrome 2 (myopathic type) | | | | 103 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TMEM240 CL E G H | 339453 | 25186 | OMIM:607454 | Spinocerebellar ataxia 21 | | | | 9 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TMEM38B CL E G H | 55151 | 25535 | OMIM:615066 | OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14 | | | | 4 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TMEM63C CL E G H | 57156 | 23787 | OMIM:619966 | | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TMPRSS3 CL E G H | 64699 | 11877 | OMIM:601072 | DEAFNESS, AUTOSOMAL RECESSIVE 8; DFNB8 | | | | 111 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TNFAIP3 CL E G H | 7128 | 11896 | OMIM:616744 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL | | | | 26 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | | | | 140 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TPK1 CL E G H | 27010 | 17358 | OMIM:614458 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | | | | 21 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TPM1 CL E G H | 7168 | 12010 | OMIM:611878 | Cardiomyopathy, dilated, 1Y | | | | 230 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TPM2 CL E G H | 7169 | 12011 | OMIM:609285 | Nemaline myopathy 4 | . | | | 54 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TPP2 CL E G H | 7174 | 12016 | OMIM:619220 | IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TPRKB CL E G H | 51002 | 24259 | OMIM:617731 | Galloway-Mowat syndrome 5 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TRAPPC10 CL E G H | 7109 | 11868 | OMIM:620027 | | | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TRAPPC6B CL E G H | 122553 | 23066 | OMIM:617862 | Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TRDN CL E G H | 10345 | 12261 | OMIM:604772 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1 | | | | 145 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TRDN CL E G H | 10345 | 12261 | OMIM:615441 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS; CPVT5 | | | | 145 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:610448 | Chilblain lupus 1 | | | | 56 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TRIO CL E G H | 7204 | 12303 | OMIM:617061 | Mental retardation, autosomal dominant 44 | | | | 8 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TRIP13 CL E G H | 9319 | 12307 | OMIM:617598 | Mosaic variegated aneuploidy syndrome 3 | | | | 2 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616084 | SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD | | | | 28 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606071 | Hereditary motor and sensory neuropathy, type IIC | | | | 214 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:184252 | Spondylometaphyseal dysplasia, Kozlowski type | | | | 214 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | | | | 2 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TTLL5 CL E G H | 23093 | 19963 | OMIM:615860 | Cone-Rod dystrophy 19 | | | | 9 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TTN CL E G H | 7273 | 12403 | OMIM:608807 | Muscular dystrophy, limb-girdle, autosomal recessive 10 | . | | | 7128 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TUBB4B CL E G H | 10383 | 20771 | OMIM:617879 | Leber congenital amaurosis with early-onset deafness | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TULP3 CL E G H | 7289 | 12425 | OMIM:619902 | | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | TUSC3 CL E G H | 7991 | 30242 | OMIM:611093 | Mental retardation, autosomal recessive 7 | | | | 76 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | UBAP1 CL E G H | 51271 | 12461 | OMIM:618418 | Spastic paraplegia 80, autosomal dominant | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | UFSP2 CL E G H | 55325 | 25640 | OMIM:142669 | Hip dysplasia, Beukes type | . | | | 2 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | UNC13D CL E G H | 201294 | 23147 | OMIM:608898 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3 | | | | 116 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | UNC45B CL E G H | 146862 | 14304 | OMIM:619178 | MYOFIBRILLAR MYOPATHY 11; MFM11 | | | | 1 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | UNG CL E G H | 7374 | 12572 | OMIM:608106 | Immunodeficiency with hyper-igm, type 5 | | | | 44 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | UPF3B CL E G H | 65109 | 20439 | OMIM:300676 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14 | | | | 33 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | UROC1 CL E G H | 131669 | 26444 | OMIM:276880 | Urocanase deficiency | | | | 8 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | USP53 CL E G H | 54532 | 29255 | OMIM:619658 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | VHL CL E G H | 7428 | 12687 | OMIM:263400 | Erythrocytosis, familial, 2 | | | | 490 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | VPS16 CL E G H | 64601 | 14584 | OMIM:619291 | DYSTONIA 30; DYT30 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | VPS37A CL E G H | 137492 | 24928 | OMIM:614898 | SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53 | | | | 7 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | VPS41 CL E G H | 27072 | 12713 | OMIM:619389 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29 | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | VWA1 CL E G H | 64856 | 30910 | OMIM:619216 | NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | WARS2 CL E G H | 10352 | 12730 | OMIM:619738 | PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3 | | | | 2 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614377 | Nephronophthisis 13 | | | | 95 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:616307 | Senior-Loken syndrome 8 | | | | 95 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | WDR62 CL E G H | 284403 | 24502 | OMIM:604317 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | | | | 224 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | WFS1 CL E G H | 7466 | 12762 | OMIM:222300 | Wolfram syndrome 1 | | | | 389 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | WFS1 CL E G H | 7466 | 12762 | OMIM:614296 | Wolfram-Like syndrome, autosomal dominant | | | | 389 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | WNT10A CL E G H | 80326 | 13829 | OMIM:257980 | Odontoonychodermal dysplasia | | | | 71 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:256370 | Nephrotic syndrome, type 4 | . | | | 177 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 81 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | XPC CL E G H | 7508 | 12816 | OMIM:278720 | Xeroderma pigmentosum, complementation group C | . | | | 86 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ZFYVE19 CL E G H | 84936 | 20758 | OMIM:619849 | | | | | | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ZMYND10 CL E G H | 51364 | 19412 | OMIM:615444 | Ciliary dyskinesia, primary, 22 | | | | 20 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ZNF711 CL E G H | 7552 | 13128 | OMIM:300803 | MENTAL RETARDATION, X-LINKED 97; MRX97 | | | | 34 | | |
HP:0011463 | HP:0011463 | Childhood onset | 0 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |